Varaico: Literature-Extracted Genetic Variants

Gene:ORC1
Variant:p.R494Splc
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ORC1

NM_004153.4:p.R494Splc

Associated Papers

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.

Nielsen-Dandoroff E et al.

European Journal of Human Genetics : Ejhg, 2023

Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.

Schmit M et al.

International Journal of Molecular Sciences, 2021

33477564 (PubMed )
Supplement: ijms-22-00911-s001.zip › Updated_Supplementary_Tables_011721 › Supplementary_Table_S1_final_version.xlsx › MGS

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

de Munnik SA et al.

American Journal of Medical Genetics. Part A, 2012

Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Bicknell LS et al.

Nature Genetics, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."